Fumarase deficiency (Q93764): Difference between revisions
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Revision as of 08:51, 16 August 2026
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_780506966 |
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| English | Fumarase deficiency |
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios. |
